Newly-discovered role for Nf1 gene explains heart abnormalities associated with neurofibromatosis
...ice bred to lack the Nf1 gene, the neurofibromin deficiency had a much stronger effect on cardiac cells than it does in humans, causing cardiac abnormalities so severe that they did not survive to birth. Epstein and his colleagues managed to work around this problem by breeding mice that mimic the loss of Nf...JCI Table of Contents, December 2, 2002
...bone formation from boneresorption during estrogen deficiency Postmenopausal drops in estrogen levels cause increased bone resorptionwithout compensatory increase in bone formation -- resulting in net bone lossand osteoporosis. The absence of estrogen leads to elevated levels of IL-7,and M. Neale Weitzmann and...Genetic clash doubles schizophrenia risk
...lity in the prenatal environment -- such as oxygen deficiency to the brain -- could predispose a child for schizophrenia later in life." To test their theory, the UCLA team collaborated with Dr. Leena Peltonen, UCLA professor of human genetics. She mapped out the genetic make-up of 181 Finnish families in which...JCI Table of Contents, November 18, 2002
...**************************************** Arginine deficiency affects early B cell maturation and lymphoid organdevelopment in transgenic mice CONTACT: Wouter H. Lamers University of Amsterdam Department of Anatomy and Embryology Academic Medical Center Meibergdreef 15 Amsterdam, 1105 AZ THE NETHERLANDS Phone...UCSD bioengineers develop first computer model that predicts disease variant based on genetic defect
...netic information from patients who have an enzyme deficiency that causes hemolytic anemia. Physicians have recorded some 150 DNA sequence variations that could be involved in this type of anemia. By inserting the specific DNA sequences into a computer model for red blood cell metabolism, Palsson accurately p...JCI table of contents, October 21, 2002
...ously reported on 2 children withcongenital leptin deficiency suffering from hyperphagia and severe obesity.These conditions were reduced following 1 year of subcutaneous recombinanthuman leptin therapy in the older subject. The authors now report (on pages1093-1103) on the status of these two children, as well...Relaxed mice may provide clues for treating anxiety
...oven clinically problematic, the finding that PKCe deficiency yields anxiolytic-like results is promising and it is attractive to imagine that PKCe blockade would result in anxiolysis by making our brains more sensitive to our own endogenous anxiolytics" noted Dr. Joshua Gordon of the Center for Neurobiology an...JCI table of contents: October 1, 2002
...oven clinically problematic, the finding that PKCe deficiency yields anxiolytic-like results is promising and it...of a hepcidin transgene in the liver leads to iron deficiency and anemia. A study in this issue (pages xxxyyy) that examines hepcidin levels in other conditions f...Gene therapy treats first disease affecting multiple organ systems in a large animal
...olved dogs with a rare disorder in which an enzyme deficiency causes clouding of the corneas, cardiac disease and bone abnormalities leading to loss of mobility by six months of age. Newborn dogs treated with hepatic gene therapy maintained near-normal mobility throughout the 17-month study and showed little e...Bone marrow donor cells present in muscle fibers of boy with MD years after transplant
... this patient with X-linked severe combined immune deficiency (SCID). Often known as "bubble boy disease" after David Vetter, the patient who lived in a germ-free plastic bubble for 12 years, SCID results from a genetic mutation that greatly reduces the body's ability to fight off disease. Patients have little ...Brain damage in infants not always tied to delivery
...In conclusion, while some have claimed that oxygen deficiency during birth is associated with most cases of neonatal seizures, our findings do not support this," Graham says....Subtract a gene and feasting mice add no fat
...s in the blood low. Diabetes is characterized by a deficiency of insulin and high levels of sugar in the blood. "These animals are more insulin sensitive and don't become diabetic," Ntambi says. "After eating, glucose levels rise, but within a very short time the glucose goes down and stays down." Control anima...Mice provide insight into bone metabolism disorders
...osteoclasts. The researchers also determined how a deficiency in SHIP leads to an excess number of enlarged osteoclasts. In addition to having too many nuclei, the cells also were hypersensitive to two proteins macrophage-colony stimulating factor (M-CSF) and receptor activator of nuclear factor-kB ligand (RAN...UCLA scientists discover hormone may spur dramatic weight loss
...s still prepubescent. "We hypothesized that leptin deficiency may lead to obesity and, in some cases, delay sexu... scientists had never studied the effect of leptin deficiency and replacement in humans. The cousins' dispositions also altered. Within two weeks of leptin therap...Damage from acid rain pollution is far worse than previously believed
...onmental stresses. This connection between calcium deficiency and environmental stress exposure are common components in the declines of several tree species, including red spruce, sugar maple, and flowering dogwood. Their "immune response" hypothesis provides an overarching explanation of how acid rain ultima...Research identifies enzyme involved in fat storage
...curring unwanted side effects," he said. "An SCD-1 deficiency produced by drugs might affect metabolism and alter levels of free radicals in the body in a way that would be harmful. So, while I believe that drugs to target SCD-1 are worth exploring, as with any potential drug strategy, there are no guarantees t...Researchers discover molecular 'switch' that tells body to store or burn fat
...diture. It is both surprising and important that a deficiency of SCD-1 reduced obesity by increasing energy expe...g SCD-1 completely corrected the effects of leptin deficiency on energy expenditure. "The repression of SCD-1 accounts for a significant proportion, perhaps even...Hormone replacement therapy may help prevent heart vessel disease, says Wake Forest researcher
...lacement was administered at the onset of estrogen deficiency which compares to the postmenopausal transition i...who begin estrogen replacement as soon as estrogen deficiency begins during the perimenopause transition or at menopause." Two studies examining heart disease in...Gene therapy researcher selected as Howard Hughes Medical Institute investigator
...g hemophilia B, the form of hemophilia caused by a deficiency of blood clotting factor IX. That approach holds the potential of treating human disease at a fundamental level, by delivering therapeutic genes directly into a patient's cells. In 1999, Dr. High's research team showed that gene therapy could achie...Even mild vitamin C deficiency may have negative effect on vascular function
...Pittsburgh School of Medicine suggests even a mild deficiency in vitamin C appears to negatively affect vascular elasticity and function a key symptom of preeclampsia. Research is closing in on this menace, said James M. Roberts, M.D., professor and chairman of research in the department of obstetrics, gynecol...